Motor Speech
Deficits in 22q11.2
Deletion Syndrome
Adriane L. Baylis, PhD,1 John N. Jensen, MD,2
Richard E. Kirschner, MD1, Lawrence D. Shriberg, PhD3
1Nationwide
Children’s Hospital and The Ohio State University School of Medicine,
Hospital of Wisconsin and Medical College of Wisconsin, 3University of
Wisconsin-Madison
2Children’s
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Disclosures
I have no relevant financial or nonfinancial
relationships in the products or services
described, reviewed, evaluated or compared in
this presentation.
Background
Motor Speech Disorders (MSD), including both apraxia of speech and dysarthria,
have been reported in children and adults with 22q11.2DS
Clinical debate on the potential overdiagnosis of Childhood Apraxia of Speech
(CAS) in 22q11.2DS is, in part, due to possible overlap in the signs of each
disorder.
• Severe articulation disorder with limited speech intelligibility
• Lack of oral movement during compensatory misarticulations
(Persson et al., 2003; Carneol et al., 1999; D’Antonio et al., 2001; Solot et al., 2000; Golding-Kushner, 1985;
Kummer et al., 2007; Mills et al., 2006; Zaleski et al., 2009; Baylis 2011).
Research in MSD in 22q11.2DS
• Retrospective studies using chart reviews have
reported that 36-85% of children with 22q11.2DS have
features consistent with or a clinical diagnosis of CAS
(Mills et al., 2006; Kummer et al., 2007).
• Prospective studies using instruments that purport to
assess CAS (e.g., Hickman Apraxia Profile, Nuffield
Dyspraxia Assesssment) have reported that 52% of
participants with 22q11.2DS have features consistent
with CAS (Mills et al., 2006; Kummer et al., 2007).
Limitations of Research in MSD in 22q11.2DS
• Lack of an explanatory account of CAS at neurologic
and speech processing levels;
• Lack of a standardized assessment procedure and
diagnostic criteria to classify a child as positive for CAS
(ASHA, 2007; McCauley and Strand, 2008);
• Lack of studies comparing speech findings in
22q11.2DS with speech findings in children with other
subtypes of speech sound disorders, including Speech
Delay and subtypes of dysarthria.
Significance
Research in children with 22q11.2DS using contemporary
methods for classification of CAS and other forms of MSD
has the potential to refine our understanding of the
speech phenotype of children with 22q11.2DS, as well as
inform clinical management.
• This study provides the first preliminary estimate of the
clinical prevalence of CAS in children with 22q11.2DS
using a standardized diagnostic marker of CAS.
Research Questions
1. Do children with 22q11.2DS meet a
standardized research criterion for CAS?
2. Do any of the sample meet emerging
research criteria for a subtype of Motor
Speech Disorders termed “Motor Speech
Disorder-Not Otherwise Specified” (MSDNOS)?
Method
Participants
• Children recruited by mailings from two major
Midwest pediatric medical centers
• 18 children with 22q11.2DS
• Ages 6-18 years
• No history of permanent hearing loss
• Native English speakers
Method
• All assessment tasks administered by the same
SLP
• Madison Speech Assessment Protocol (MSAP, Shriberg et
al., 2010)
•
15 spontaneous and imitated speech tasks in simple to challenging
contexts
• Kaufman Brief Intelligence Testing-2 (K-BIT2)
• Oral and Written Language Subscales (OWLS)
• Questionnaires on participant’s medical, speech, and educational
histories.
• All MSAP speech tasks audio recorded
Method
• MSAP speech data were reduced independently by trained speech
research assistants using the Speech Disorders Classification System
(Shriberg et al., 2010), including narrow phonetic transcription,
prosody-voice coding, and acoustic analyses.
• Classification as CAS requires participants to meet percentage
cutoff criteria on inappropriate pauses and inappropriate stress,
using an acoustic-aided motor-speech typology (Shriberg et al., in
preparation).
• Classification as having an MSD other than CAS requires criterion zscores on an emerging set of perceptual and acoustic signs of
dysarthria or “MSD-NOS” using data from a reference sample of
150 typical speakers (Potter et al., 2012).
A Diagnostic Phenotype for Childhood Apraxia of
Speech: The Pause-Stress Marker (a)
•
Pauses (P+): Inappropriate pauses in
continuous speech, coded using a
10-category linguistic typology (e.g.,
sharp, grope, etc.)
•
Stress (S+): Excessive and equal
stress on words and phrases in
continuous speech (sentential level).
•
Based on % of opportunities within
24 utterances If cutoff threshold
exceeded, then are coded as (+) for
that feature (e.g., P+S+, P+S-, P-S+).
•
P+S+ has been shown to be
the main diagnostic feature
that separates children with
CAS from age/gender
matched peers with Speech
Delay.
• Specificity for a sample of 224
children with Speech Delay was >
98% (Shriberg et al., in preparation).
(a) Shriberg, L.D., Strand, E.A., Jakielski, K.J., Karlsson, H., Mabie, H.L., McSweeney, J., Tilken, C., Wilson,
D. (In Prep). A diagnostic phenotype for childhood apraxia of speech: The pause-stress marker.
Results
• 3 of the 18 participants (16.7%) with 22q were
positive for the diagnostic marker (P+S+) for
childhood apraxia of speech.
• Several of the remaining 22q participants
were positive on an emerging set of speech,
prosody, and voice signs consistent with MSDNOS (e.g., P-S+).
Conclusions
• Findings support the perspective that approximately 1 in 6 youth
with 22q11DS meet contemporary criteria for Childhood Apraxia of
Speech. They fail to support prior reports that CAS is a highly
prevalent type of speech sound disorder.
• Findings for this sample of children with 22q11DS support the
perspective that in addition to their speech delay, some may have
additional motor speech involvement.
• Given the critical role of differential diagnosis in treatment
planning, findings support the need for larger scale research on the
prevalence and genetic and neural substrates of CAS and other
types of motor speech disorders in youth with 22q11DS.
Acknowledgments
•
•
•
National Institute on Deafness and Other Communication Disorders [DC00496] and
a core grant to the Waisman Center from the National Institute of Child Health and
Development [HD03352], PI: Lawrence Shriberg, PhD.
UL1RR025755 from the National Center For Research Resources (National Center
for Advancing Translational Sciences)
Phonology Project, Waisman Center, University of Wisconsin-Madison
Key References
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Shriberg, L. D. (2010). A neurodevelopmental framework for research in Childhood Apraxia of Speech. In B.
Maassen & P. van Lieshout, (Eds.), Speech Motor Control: New Developments in Basic and Applied
Research. Oxford: Oxford University Press.
Shriberg, L. D., Ballard, K. J., Tomblin, J. B., Duffy, J. R., Odell, K. H., & Williams, C. A. (2006). Speech,
prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.
Journal of Speech, Language, and Hearing Research, 49, 500-525.
Shriberg, L. D. & Lohmeier, H. L. (2008). The Syllable Repetition Task (Tech. Rep. No. 14). Phonology
Project, Waisman Center, University of Wisconsin-Madison.
Shriberg, L. D., Lohmeier, H. L., Campbell, T. F., Dollaghan, C. A., Green, J. R., & Moore, C. A. (2009). A
nonword repetition task for speakers with misarticulations: The Syllable Repetition Task (SRT). Journal of
Speech, Language, and Hearing Research, 52, 1189-1212.
Shriberg, L. D., Lohmeier, H. L., Strand, E. A., & Jakielski, K. J. (2012). Encoding, memory, and transcoding in
Childhood Apraxia of Speech. Clinical Linguistics & Phonetics, 26, 445–482.
Shriberg, L. D., Potter, N. L., & Strand, E. A. (2011). Prevalence and phenotype of childhood apraxia of
speech in youth with galactosemia. Journal of Speech, Language, and Hearing Research, 54, 487-519.
Shriberg, L.D., Strand, E.A., Jakielskic, K.J., Karlssona, H., Mabie, H.L., McSweeney, J., Tilken, C.,
Wilson, D. (In Prep). A diagnostic phenotype for childhood apraxia of speech: The pause-stress marker.